Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome - Wikidata - wikimedia - TriplyDB

Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome

Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome

http://www.wikidata.org/entity/Q28242068

about

Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid A missense mutation in the human cytochrome b5 gene causes 46,XY disorder of sex development due to true isolated 17,20 lyase deficiency Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis Substrate-specific modulation of CYP3A4 activity by genetic variants of cytochrome P450 oxidoreductase Impaired hepatic drug and steroid metabolism in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders Structural basis for human NADPH-cytochrome P450 oxidoreductase deficiency Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation A Genetic-Pathophysiological Framework for Craniosynostosis Pharmacogenomics of human P450 oxidoreductase Shedding light on protein folding, structural and functional dynamics by single molecule studies Cytochrome P450s in the synthesis of cholesterol and bile acids--from mouse models to human diseases.Backdoor pathway for dihydrotestosterone biosynthesis: implications for normal and abnormal human sex development Effects of genetic variants of human P450 oxidoreductase on catalysis by CYP2D6 in vitro Regulation of 17,20 lyase activity by cytochrome b5 and by serine phosphorylation of P450c17 Influence of various polymorphic variants of cytochrome P450 oxidoreductase (POR) on drug metabolic activity of CYP3A4 and CYP2B6 Cytochrome P450 Oxidoreductase Influences CYP2B6 Activity in Cyclophosphamide Bioactivation Regulation of P450 oxidoreductase by gonadotropins in rat ovary and its effect on estrogen production Ligand Activation of ERRα by Cholesterol Mediates Statin and Bisphosphonate Effects Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues NADPH-cytochrome P450 oxidoreductase: prototypic member of the diflavin reductase family.Pharmacogenomics of human liver cytochrome P450 oxidoreductase: multifactorial analysis and impact on microsomal drug oxidation.Human cytochrome P450 oxidoreductase deficiency caused by the Y181D mutation: molecular consequences and rescue of defect.Recruitment of governing elements for electron transfer in the nitric oxide synthase family Gas chromatography/mass spectrometry (GC/MS) remains a pre-eminent discovery tool in clinical steroid investigations even in the era of fast liquid chromatography tandem mass spectrometry (LC/MS/MS).Heme oxygenase isoforms differ in their subcellular trafficking during hypoxia and are differentially modulated by cytochrome P450 reductase.Prenatal polycyclic aromatic hydrocarbon exposure leads to behavioral deficits and downregulation of receptor tyrosine kinase, MET.Malformation syndromes caused by disorders of cholesterol synthesis.Ontogeny of adrenal steroid biosynthesis: why girls will be girls.Congenital adrenal hyperplasia and P450 oxidoreductase deficiency.Identification of six novel P450 oxidoreductase missense variants in Ashkenazi and Moroccan Jewish populations.Concomitant mutations in the P450 oxidoreductase and androgen receptor genes presenting with 46,XY disordered sex development and androgenization at adrenarche.Transcriptional regulation of the human P450 oxidoreductase gene: hormonal regulation and influence of promoter polymorphisms.Conditional deletion of cytochrome p450 reductase in osteoprogenitor cells affects long bone and skull development in mice recapitulating antley-bixler syndrome: role of a redox enzyme in development.High-yield expression of a catalytically active membrane-bound protein: human P450 oxidoreductase.Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.Identification of cytochrome P450 oxidoreductase gene variants that are significantly associated with the interindividual variations in warfarin maintenance dose.NADPH-cytochrome P450 reductase is regulated by all-trans retinoic acid and by 1,25-dihydroxyvitamin D3 in human acute myeloid leukemia cells.Mouse knockout of the cholesterogenic cytochrome P450 lanosterol 14alpha-demethylase (Cyp51) resembles Antley-Bixler syndrome Clinical and molecular review of atypical congenital adrenal hyperplasia

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P2860

Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome

http://www.wikidata.org/entity/Q28242068

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2004 nî lūn-bûn

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2004 թուականի Մարտին հրատարակուած գիտական յօդուած

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2004 թվականի մարտին հրատարակված գիտական հոդված

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Mutant P450 oxidoreductase cau ...... without Antley-Bixler syndrome

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Mutant P450 oxidoreductase cau ...... without Antley-Bixler syndrome

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Mutant P450 oxidoreductase cau ...... without Antley-Bixler syndrome

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Mutant P450 oxidoreductase cau ...... without Antley-Bixler syndrome

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Mutant P450 oxidoreductase cau ...... without Antley-Bixler syndrome

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Mutant P450 oxidoreductase cau ...... without Antley-Bixler syndrome

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Mutant P450 oxidoreductase cau ...... without Antley-Bixler syndrome

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Mutant P450 oxidoreductase cau ...... without Antley-Bixler syndrome

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Mutant P450 oxidoreductase cau ...... without Antley-Bixler syndrome

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Nature Genetics

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Mutant P450 oxidoreductase cau ...... without Antley-Bixler syndrome

@en

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Charles F Verge

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Christa E Flück

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Kenji Fujieda

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Kouji Okuhara

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Toshihro Tajima

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Walter L Miller

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P2860

The genetic and functional basis of isolated 17,20-lyase deficiency

Three-dimensional structure of NADPH-cytochrome P450 reductase: prototype for FMN- and FAD-containing enzymes

Association of multiple developmental defects and embryonic lethality with loss of microsomal NADPH-cytochrome P450 oxidoreductase

Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

Cytochrome b5 augments the 17,20-lyase activity of human P450c17 without direct electron transfer.

Identification of novel roles of the cytochrome p450 system in early embryogenesis: effects on vasculogenesis and retinoic Acid homeostasis.

A male patient presenting with major clinical symptoms of glucocorticoid deficiency and skeletal dysplasia, showing a steroid pattern compatible with 17alpha-hydroxylase/17,20-lyase deficiency, but without obvious CYP17 gene mutations.

Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia.

FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome.

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228-230

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2020558

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10.1038/NG1300

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3

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36

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Ethylin Wang Jabs

Berenice Bilharinho Mendonca

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2004-02-01T00:00:00Z

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8890768

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14758361

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